DeMoisier's Syndrome
By, Jessica Blank, Undergraduate Student, College of Health and Human Performance, University of Florida, Gainesville, FL

Background and Purpose
Children who have DeMosier's Syndrome (septo-optic dysplasia) are often times born with variations of abilities and will react differently to treatment. The purpose of this case study is to investigate the progress of one child with DeMosier's Syndrome in the school setting.

Case Description: patient history and characteristics

A 7-year-old girl, Amanda, has been diagnosed with DeMosier's Syndrome, Diabetes Insipidus, and failure to thrive. Her birth weight and gestation time were normal. She was diagnosed with DeMosier's Syndrome at 3 months of age. A neuro-opthamologist indicated the child had lack of light perception, as well as no signs of avoidance by age 4 months. At age one, Amanda was not gaining proper weight and a gastrointestinal tube was inserted. Developmental assessments were conducted through the Early Intervention Program at ages one and two. Amanda had not attained developmental milestones. According to the Mullen Scales of Early Learning, the child fell significantly short in gross and fine motor skills, visual reception, and receptive and expressive language. Amanda's Mullen score placed her in the 1st percentile rank for overall development. From ages 0 to 3 Amanda received Part C education including speech therapy, physical therapy, occupational therapy, and special instruction. At age 3 she entered the public school system and attended a special needs school. After 4 years in the special needs school, Amanda was transferred to a special education classroom at a regular education elementary school.

Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum, and pituitary-hypothalamic dysfunction such as growth hormone deficiency. Many children who are diagnosed with SOD are found to have no septum pellucidum and bilateral optic nerve hypoplasia. The number of cases are rare and sporadic with several possible causes. Although there are many suggested causes, some cases have a similar mutation in a key developmental gene, including genes HESX1, SOX2, and SOX3. The precise etiology of SOD is most likely multifactorial involving contributions from environmental factors in addition to an important role from crucial developmental genes. The variability of the penetrance and phenotypes within a single SOD pedigree may also suggest a complex interaction between genetics and the environment, and at present, the understanding of these interactions is rudimentary. Further study of these critical factors may shed light on the aetiology of this complex disorder (Kelberman D, 2008).

Many children who have DeMosier's Syndrome do not have properly functioning pituitary glands and have hormonal deficiencies (Kelberman D, 2008). There are many hormonal supplements that children with DeMosier's Syndrome can benefit from, including thyroid, for hypothyroidism, cortef, for cortisone deficiency, a drug called Desmopressin Acetatethat helps with diabetes insipidus, growth hormone to assist in growth, and testosterone to treat micro genitalia. Some typical symptoms are delayed growth, sleep schedule disturbances, lack of appetite, hyper/hypothermia, hypotonicity, sensory integration disorders, obsessive behaviors, delayed or lack of vision, hypothyroidism, and gravitational insecurity (Blank, 2008).

SPECIAL SERVICES:

Physical Therapy
Amanda was originally evaluated for school just before her third birthday. At this age, she had fair strength with overall hypotonia. Amanda also had good range of motion in her extremities, but dorsiflexion appeared limited. Amanda sat with good balance with posterior support, but has poor unsupported sitting balance. She did not transition herself from supine to sit, and did not use stomach muscles to assist in transitions. When in a supported baby walker, Amanda did feel comfortable enough to initiate standing. She also was found to have many sensory issues. Amanda did not like having her hands, feet, or head touched. She responded to mother's questions and commands, although not at her age appropriate developmental level. The evaluating physical therapist recommended physical therapy to address student's mobility, positioning, and gross motor needs (Hensley, 2008).

At age three Amanda entered school. She was placed in a classroom for students with varying exceptionalities in a special needs school. The students in her class were all non-ambulatory and non-verbal. An Individual Educational Program was established. Her measurable annual goals for independent functioning were directly related to balance and mobility. Physical therapy was scheduled for twice a week for 45 minutes total. In addition, the therapy program was carried out on a daily basis by classroom personnel. Regarding mobility, Amanda was first placed in a gait trainer, however she tolerated the feeling of her body being in the gait trainer poorly. Eventually she was able to comfortably stand in the gait trainer. Once Amanda felt comfortable standing in the gait trainer, walking was initiated. Amanda mastered walking in the gait trainer within the first two years. The next mobility goal was to walk with a wheeled posterior walker. Her initial reaction to the introduction of the posterior walker was fear, defensiveness, and stress. The walker was continuously introduced without force to allow child to accommodate to the walker. Over the course of a year, student learned how to use the posterior walker. She required great amounts of patience and reinforcement due to marked sensory defensiveness. Amanda learned to use the gait trainer and a posterior walker while at her special needs school (Blank, 2008).

Prior to Amanda's transition to a special education class at a regular education elementary school, lofstrand crutches were introduced. Due to her sensory defensiveness and gravitational insecurity, gripping and using the crutches was aversive to her. Because of her strong negative reaction, she was unable to focus on learning how to coordinate the crutches and walking. In result, she was transitioned to walking with one hand held by an assistant. This approach has been the most effective pathway towards independent walking (Blank, 2008).

Amanda has recently been moved to a special education class at a regular education school. Walking practice is incorporated into her daily routine at school. Often, when the class transitions from one room to another, Amanda is assisted to walk with them. She is in her special education class for academic course work and attends P.E., computer, science, music, art, lunch, and recess with regular education students. She is currently working toward unassisted mobility and balance. Amanda's new interactive special education classroom encourages her to be more independent. Recently, she was walked over to a table and left standing there by herself, while the aide got her wheelchair. While the aide was across the room, another student came over Amanda to give her "five" which she did. Amanda was so happy and excited she began bending her legs up and down as she was holding on to the table and asked the girl to do it again which the girl did again and again. She was able to forget about her fears and enjoy the interactive classroom experience (Elsey, 2008).

Occupational Therapy
Originally, at age three, Amanda needed to drastically improve fine motor skills, bimanual skills, sensory processing skills, and body awareness. Occupational therapy was recommended. She has been receiving OT 45 minutes per week at school. In addition, the therapy program was carried out on a daily basis by classroom personnel. When first seen, Amanda would not put food in her mouth, or hold toys or objects in her hands due to her sensory defensiveness. Upon first evaluation, she did not allow examiners to touch her hands due to her sensory defensiveness. She could not manipulate objects or use her two hands together to achieve bimanual skills. She had poor body awareness and did not sit upright without support due to her desire to lie on the floor for tactile input that helped her know where her body was in space (Shannon, 2008).

Due to her inability to tolerate the feeling of food in her mouth Amanda was only gaining nourishment via a feeding tube. A watermelon spray was sprayed into her mouth in attempts to prepare her for food. Different textures of food were presented to Amanda in an attempt to gradually increase her tolerance for food. Currently, she is eating pureed foods as well as having GI tube feedings. Now that she is on a regular school campus, she is motivated to eat in the cafeteria with the other students (when she can tolerate the noise). This motivation has been used to encourage her to eat via mouth. In addition, therapists are helping her to learn to feed herself. Attempts have been made to give her weighted utensils to give her more feedback when she attempts to feed herself; however, thus far no success has occurred (Shannon, 2008).

Amanda's occupational therapist sees positive gains as a result of her transition from the special needs school to a regular education school in a classroom with students, who although are special education, are verbal and ambulatory. The interaction with classmates encourages her independence, and allows her to forget about her fears and anxieties while focusing on the interaction. Amanda is able to give "fives" to her classmates, something that would have never been possible with her previous classroom setting. Current goals for Amanda include independently manipulating objects during class time, properly inserting pegs into a pegboard, and string beads onto a shoelace (Shannon, 2008).

Vision and Mobility Specialist
Since moving to her new school, Amanda has made significant gains in her ability navigate her environment and accommodate for her vision impairment. Amanda makes use of her other available senses to access school. She has always relied on her sense of hearing to learn what is in her environment. For example, if Amanda hears an object that is within her reach she quickly and accurately reaches for it. If a person walks into the room she often knows who the person is just by listening to their gait pattern or keys or the sound of their voice. After moving to her new school, she even recognized the voice of previous therapists when they walked into her new classroom, even though she hadn't heard them in 5 months (Blank, 2008). In her new classroom the environment is constantly changing in a way that has stimulated her ability to use these skills. She has recently started taking steps independently to venture around the classroom by holding onto objects around her, such as desks or chairs. In addition, she has learned to recognize Braille letters and coins. Goals in the future include reading and writing using Braille (Seeley, 2008).

Speech and Language
When first evaluated at age three, Amanda appeared to be significantly behind her peers in the areas of speech and language. She appeared to understand some verbal language. She was able to say 'up' and 'mama.' When prompted, she was able to imitate several single words. Upon her first IEP in 2004, her speech language goals included the following: combine the use of words and gestures to make her wants known through requesting more of an activity or answering yes or no when asked questions. It was noted that Amanda often times responds with yes, even in situations when no should be the correct response. The team also wanted to help Amanda decrease oral sensitivity with the goal of tolerating two seconds of oral stimulation (Bullington, 2008).

Within the first few years of school, Amanda was reaching all goals and working on improving consistency. A voice output device with pre-Braille symbols was introduced to Amanda. Sequencing and counting were worked on during Amanda's therapy sessions. The speech therapist was met with many challenges as much of her material is made for visual presentation. Many pictures the therapist typically uses were not relevant for Amanda, such as dinosaurs, soccer, and flat tire. Games were played to try to teach Amanda new words; however, the greatest benefit of the game playing is that she has learned socialization skills while playing games, such as turn taking skills, instead of the intended purpose of verbalization (Bullington, 2008).

A current goal for Amanda is to consistently use 'no' when appropriate. Another goal is to answer to who, what, where, when, and why (WH) questions when specifically told, "Amanda listen to my question…" with 70% accuracy over 5 trials (Bullington, 2008).

Educational Teacher
When Amanda was age three, she was enrolled at a center school for students who have profound emotional and physical disabilities. Her classmates were non ambulatory and nonverbal. Throughout the four years she was attending this school, there was constant support and aid to accommodate the wide variety of disabilities Amanda has. Curriculum and learning goals included speaking 2-4 word phrases, answering yes or no, as well as answering personal information. Amanda's priority educational need in the area of social/emotional is to increase her oral intake of blended food. Her teacher also worked on helping Amanda independently navigate her classroom. Her special education teacher implemented assistive technology programs to help Amanda improve communication skills (Team, 3/20/08- 3/20/09).

The summer before the 2007-2008 school year, Amanda was transferred to a regular education school, and placed into a special education classroom. Her new classmates are ambulatory, as well as verbal. Amanda has met many of her previous teacher's goals. She has answered WH questions with an increase in accuracy. In the area of independent functioning, Amanda’s current goal is to take 5 steps without support, but with close supervision and verbal cues. Social Emotionally, Amanda’s teacher notices that she has difficulty expressing frustration and unhappiness. When startled or upset, it is very common for Amanda to have loud outbursts, and in result effective communication is impossible. Her current goals for coping with unexpected or undesirable events included using appropriate phrases, tone, and volume to express herself when upset or unhappy. Her teacher’s goal for curriculum and learning is for Amanda to use Braille to read simple words and shapes. Her teacher has noted that she loves to accomplish new skills and is very excited to learn (Team, 3/20/08- 3/20/09).

Physical Education
When first introduced to physical education, Amanda could not participate. Most notably, was her intolerance of the setting. She could not handle being in the gymnasium with other students. Her chief complaint was the noise level. Due to Amanda’s overly defensive senses, the physical education teacher had to approach her from a different angle. First, the physical education teacher took Amanda into the hallway to conduct PE session. Once Amanda was comfortable having PE class in the empty hallway, she was moved into the gymnasium when it was empty. When Amanda felt comfortable being in the gymnasium, other students were introduced. Currently, Amanda is attending PE class with other classmates. Initially during PE class, Amanda's activities included "following" and "finding" the PE teacher in her wheelchair. Once this skill was mastered, she started playing with a beep ball. Eventually she used her walker to walk for fun, then to walk for exercise then finally to walk from the bus to her classroom everyday (Widrig, 2008).

Adaptations
Special adapted equipment includes an adapted chair, wheelchair, gait trainer, and posterior walker. The adapted chair was designed to give the student the support needed to sit safely. The gait trainer and walker gave the student support for walking. She also used a manual wheelchair which she learned to push independently with verbal cues for direction due to her blindness (Blank, 2008).

Many modifications were made in Amanda's classroom to create an accessible environment. Because she presents with extreme sensory defensiveness to loud sudden noises and to textures, but at the same time likes to hear noises that she controls, such as banging feet and hands on her desk, a single unit desk/ chair was provided (the chair and the desk are connected). This unit eliminated the need to slide the chair to the desk, and reduced the sound created by the chair against the floor. Amanda had been known to rock the chair because she liked the banging noise she could create herself. The connected unit prevents her from accidentally tipping herself over in the chair. This unit is properly positioned at 90-90-90 (Shannon, 2008). In the lunchroom, she is provided with an adapted chair so she can be properly positioned while eating. The chair is adapted to be at the correct height of the lunch table as well as having a back and arms to provide assistance with body awareness. After she eats, the aide lets her sit on the bench (with supervision) with the other children as a reward for eating.

While Amanda is in the cafeteria, noise levels can trigger her sensory disabilities. The loud noise levels can put her in extreme discomfort. OT attempted to introduce noise reducing headphones; however, due to her extreme sensory and tactile defensiveness the headphones were rejected and Amanda attempts to combat the noise herself by putting her head down and covering her ears (Shannon, 2008). At times the noise level will become such a problem she will need to be removed from environment and put in a quiet environment. Progress is being made in this area.

Another piece of adaptive equipment is a special keyboard and computer software. The computer software provides auditory feedback when Amanda makes a selection on the keyboard. The keyboard is a flat screen that allows for individualized overlays to be placed on the keyboard. For example, one overlay includes cards with buttons placed to simulate Braille letters. When Amanda hits a Braille letter on the adapted keyboard, the letter is spoken by the computer (Blank, 2008).

Outcomes
Amanda has shown a vast amount of gains since starting school. Upon first entering school, she would not attempt to walk; currently, she walks with minor assistance. Amanda has also improved her sensory defensiveness. She has gone from not being able to stand objects in her hands, to now holding and manipulating objects for minutes at a time while using bimanual skills. Amanda has also grown more tolerant to sound; although she has much improvement room is still available. Her new found tolerance of sound has given Amanda the opportunity to interact with her classmates. She has expanded her language and communication skills which allow her to have her needs and opinions expressed. Again, she has improved, but still works on this skill as she is below her age appropriate developmental level. Amanda has begun to use assistive technology to compensate for her blindness. She has gone from a classroom with no interaction among classmates to a setting that encourages socialization and stimulation. The new school has allowed Amanda to flourish while accommodating and adapting to her disabilities. While Amanda has made significant progress, she is still behind her age appropriate developmental level in all aspects. Her will to learn and excitement for accomplishing new goals helps Amanda in making constant improvements.


References
Blank, J. (2008, February 20). Physical Therapist, Assistive Technologist. (J. Blank, Interviewer)
Bullington, L. (2008, March). Speech and Language Therapist. (J. Blank, Interviewer)
Elsey, B. (2008, February). Physical Therapist. (J. Blank, Interviewer)
Hensley, M. (2008, February). Physical Therapist. (J. Blank, Interviewer)
Kelberman D, D. M. (2008). Septo-Optic Dysplasia - Novel Insights into the Aetiology. PubMed , 257-265.
Seeley, C. (2008, February ). Vision and Mobility Specialist. (J. Blank, Interviewer)
Shannon, C. (2008, March). Occupational Therapist. (J. Blank, Interviewer)
Team, I. (3/20/08- 3/20/09). Individualized Educational Plan. Stuart: Martin County School District.
Widrig, A. (2008, March). Adapted Physical Education Teacher. (J. Blank, Interviewer)

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